Hageman M J, Delleman J W
Am J Hum Genet. 1977 Sep;29(5):468-85.
Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling.
对文献中1285例患者以及荷兰五个家族中34例此前未报告的患者进行综述，证实了瓦登伯革氏综合征的异质性。该综合征似乎由两个基因不同的实体组成，可在临床上加以区分：I型，伴有内眦异位的瓦登伯革氏综合征；II型，不伴有内眦异位的瓦登伯革氏综合征。两种类型均为常染色体显性遗传模式。发现该综合征两种类型中双侧耳聋的发生率，I型为四分之一，II型约为一半。这种差异对遗传咨询具有重要意义。
